Canonical Allele Identifier: CA413187431
Gene: AKAP4 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.49957023T>C (hg19) chrX:g.50192372T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50192372T>C , CM000685.2:g.50192372T>C GRCh38
NC_000023.10:g.49957023T>C , CM000685.1:g.49957023T>C GRCh37
NC_000023.9:g.49843763T>C NCBI36
NG_012552.1:g.13642A>G
NG_012552.2:g.13642A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000358526.7:c.2341A>G MANE Select ENSP00000351327.2:p.Ile781Val
ENST00000358526.6:c.2341A>G ENSP00000351327.2:p.Ile781Val
ENST00000376064.7:c.2314A>G ENSP00000365232.3:p.Ile772Val
ENST00000481402.5:n.2453A>G
NM_003886.2:c.2341A>G NP_003877.2:p.Ile781Val
NM_139289.1:c.2314A>G NP_647450.1:p.Ile772Val
NM_003886.3:c.2341A>G MANE Select NP_003877.2:p.Ile781Val
NM_139289.2:c.2314A>G NP_647450.1:p.Ile772Val
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